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ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene.
Gene Name: | electron-transfer-flavoprotein, alpha polypeptide |
Synonyms: | ETFA, Alpha-ETF, GA2, EMA, Glutaric aciduria II |
Target Sequences: | NM_000126 NP_000117.1 P13804 |
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